TY - CHAP M1 - Book, Section TI - Craniosynostosis A1 - Bianchi, Diana W. A1 - Crombleholme, Timothy M. A1 - D'Alton, Mary E. A1 - Malone, Fergal D. Y1 - 2015 N1 - T2 - Fetology: Diagnosis and Management of the Fetal Patient, 2e AB - Key PointsCondition due to premature fusion of cranial sutures (sagittal, coronal, lambdoid, or metopic).Incidence is 1 in 2000 livebirths. One of the most common human malformations.Eighty to ninety percent of cases are isolated, 10%–20% are syndromic.Women with fetuses suspected of having craniosynostosis should be referred for a detailed fetal anatomic survey. Sonographers should pay attention to the fetal hands, midface, heart, and central nervous system.Differential diagnosis includes Muenke coronal craniosynostosis, Saethre–Chotzen syndrome, Apert syndrome, Crouzon syndrome, Pfeiffer syndrome, and many others.DNA diagnosis is available to detect mutations in the causative genes associated with craniosynostosis, including FGFR1, FGFR2, FGFR3, TWIST, and MSX2.Newborns are at risk for difficulties with breathing, feeding, and vision. Consultation with genetics and neurosurgery is indicated.Long-term outcome and recurrence risk depend on identification of a genetic basis through DNA analysis. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/29 UR - obgyn.mhmedical.com/content.aspx?aid=1106396254 ER -